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congenital muscular dystrophy-dystroglycanopathy A7
Summary
- Synonym
-
- MDDGA7
- Walker-Warburg syndrome or muscle-eye-brain disease ISPD-related
- congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A7
- Definition
- A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in ISPD on 7p21.2-p21.1.
- Super Class
- congenital muscular dystrophy-dystroglycanopathy type A
External Links
- Disease Ontology
- DOID:0111234
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003202 | Skeletal muscle atrophy |
| HP:0003560 | Muscular dystrophy |
| HP:0007731 | Chorioretinal dysplasia |
| HP:0007957 | Corneal opacity |
| HP:0007973 | Retinal dysplasia |
| HP:0008736 | Hypoplasia of penis |
| HP:0010508 | Metatarsus valgus |
| HP:0012400 | Abnormal circulating aldolase concentration |
| HP:0001290 | Generalized hypotonia |
| HP:0003236 | Elevated circulating creatine kinase concentration |
